Sunday, December 16, 2012

In the whole of humanity, there is not much that can make us different, there are numerous people who have the same genes as you do or the same traits. However, there is no one who has the exact same combination as you do. My combination is what makes me unique; such as my curly brown hair, average female Anglo-Saxon build and a carrier for hemochromatosis. The shape of my body also sets me apart. I am of 100% European descent, and my skull shows it. I have narrow nasal aperatures, a pointed nasal spine, a narrow and triangular palate, a curved suture between the zygomatic and maxilla, slight overbite and lighter and relatively smaller facial bones (Naples). My teeth would specify my skull as me, because my environment affected how the enamel developed and thickened, and how the teeth came in. I have one chipped upper incisor from when I fell as a child, and forced movement in my teeth from braces. These environmental forces have made my skull change in ways to adapt to them, which separates me from the rest of the world but still connects me with what makes me human and my ability to adapt to my environment.

Saturday, December 15, 2012

I had myself sequenced with 23andMe last semester, and was so interested, I wanted to take another APG class that would go into more depth with it. In September, my dad did his spit-test, in October, my mom volunteered, and during Thanksgiving, my dad and I convinced my paternal grandmother (who is 90!) to try it (it was no cost to her, as we paid for it, although she complained about the amount of spit that was needed). My grandmother's results came in two days ago, and combined with my parents' and my own, things are coming together.

I already knew my maternal haplogroup (H10), and where my mother's family had been for centuries, because of my own testing and because of an extensive family tree. My cousin has been sending me emails with old photos attached, of my great-grandparents on both of my mom's parents' sides, as well as great aunts and uncles, and even further back. There is a daguerreotype of my great-great (etc.) grandfather Schemmel (my mom's maiden name) from the early 1800s even. Considering all I know, the DNA results came as a slight surprise. My mom is only 1.6% German according to 23andMe, and I am 8.6%. This obviously means 23andMe has a way to go before their results in ancestry are close to perfect.

My dad was the most fascinating (hence why I wanted him to be tested first). This is because I am the carrier of the disease Familial Mediterranean Fever, and he is too. We also found out that my Grammy is as well (no surprise). This does not prove they are my father and grandmother, but other evidence suggests it, like the fact that half of my chromosomes are the same as my dad's. My dad has another reason for trying 23andMe, and this is to find out more about his (and my) family. He has been told that his mother's family came over to the U.S. from Ukraine between 1915 and 1920 (my grandmother was born here in 1922). He does not know anything about his father's side (as he never knew him), and has wanted to learn more about both sides for years. We discovered some British/French/Basque roots (not exact, obviously), and this has brought us a few steps closer. My dad is his mother's son (they share the K1a1b1a haplogroup), and he also discovered his (and my) paternal haplogroup (R1b1b2, which confirms the north/western European roots). I even found out that my grandmother has some middle-eastern roots, which makes sense, as she is 100% Jewish. I am just waiting for 23andMe to come out with new information to help with my dad's dad's side.

Wow. I probably would need a separate post if I wanted to go into other things, but to me, ancestry was the most interesting. I am Ashkenazi Jewish, German, Ukrainian, and possibly British (or something else). Of course, exact nationalities have no real meaning, but the regions do help provide answers to family mysteries, as well as to help bring to life my family from years ago.

Friday, December 14, 2012

This class was definitely one of the more interesting ones that I have had the pleasure of taking while at URI. Genetics was something that never really held my interest, but this class had the perfect combination of case studies, articles and science tomake it understandable without being overwhelming. On a side note, I decided to include the poem from our presentation. feel free to reproduce, share or otherwise make use of it.

Wednesday, December 12, 2012

I never really thought about what made me human before I
took this class. It never really hit me how similar on a genetic level I was to
not only to all the other humans in the world but also how similar we as humans
are to other primates. It still blows my mind to think that the vast majority
of my genetic material is the exact same as a chimpanzee. Although biological
Anthropology isn’t exactly my cup of tea I learned more this semester about
genetics and human biology than I did in my first 21 years of life, and it
really made me think about why I am who I am and what makes humans what they
are. Through 23 and me I was able to learn a lot about myself personally and
what genetic differences make me unique. I found this most interesting because I’ve
had the same DNA my whole life and I was unable to access all the information
stored in it until now, even though I didn’t learn anything earth shattering
through my genome I did find out that genetically I have a relatively lower
chance of developing any of the conditions or diseases examined by 23 and Me,
which I guess means I did learn something useful after all. So as long as I
avoid asbestos and gamma radiation and other harmful environmental factors my
odds of remaining disease free are pretty good. Overall I really enjoyed this
class and I learned a lot and it’s given me a unique new perspective on human
beings. Also I have to give mad props to Alison, Vanessa, Gerrick, and Owen for
the Human Variation Style song they made, it’s been a week and it is still
stuck in my head.

I did not need APG 350 to graduate, or even as a
supporting elective towards my anthropology degree. I am not going to lie; the
only reason I took this course was to get my genome genotyped. It was an
opportunity to explore the chemistry that makes me, me in an organized and
structured environment that lured me in. Turns out the course itself was very
enjoyable and I learned a lot! (I highly recommend the book Mutants by Leroi) I
wish I could say the same for 23andMe however. The awesome part is that I can
access my genetic makeup by the click of a finger- but is it worth it?

Maybe
my judgment is harsh because I expected to find a revelation of myself, or at
least be more in tune with myself by finding out something that I cannot see,
yet is the very makeup of me. I was not afraid to unlock either the breast
cancer or Alzheimer’s risk values for myself because I knew neither was
prevalent in my family history. However, I know my father’s father died young
of cardiovascular issues, as did his parents before him. So no shocker when I
read my disease risk was elevated significantly for heart related diseases but
lower for cancers and Alzheimer’s. Cant take anything too heavily at the
disease risk calculator though; I am diagnosed with psoriasis (and,
unfortunately I am very aware I have it.) yet 23andMe tells me the locus for
that gene associated with psoriasis is at decreased risk. How do I interpret
this? Not that 23andMe is all just guessed work with no backbone, but rather that
the loci those 23andMe looks at are based on only current research. Scientists
don’t know everything yet, so these complex diseases have way more than a few
loci affecting them (in class I also learned that there is rarely one gene for
one trait…sorry Mendel).

As
for the other sectors 23andMe offers; the drug response, ancestry finder and
Neanderthal genome calculations are pretty interesting. It is also nice to know
if you are a carrier for a trait that could negatively affect your offspring-
but again these traits are usually diseases you know your family history has.
So basically, if you were an average Joe just looking to find out what the heck
makes you up genetically, I would not recommend spending $300 on getting a list
of traits, disease risks, and ancestry you might (or might not) have. Just look
at how much the price has gone down in the past decade! If, like I mentioned,
you know your family has a certain disease that could affect your possible
children, maybe you are better off getting your genome area sequenced to get to
most definite answer possible. (23andMe is a genotyping mechanism, which means
it has certain markers that your genome sticks to if you share the gene- it
does not map out your entire genome!)

I was lost surfing the wonders of
the 23andMe web page for a good while when I first got my results back. But
after being in a class that really tries to get to the roots of the
nitty-gritty details making us human and who we are, I came to the conclusion
that your environment tells you just as much who you are than the stuff your
parents gave you. So why would you pay $300 just to see what you most likely
will already know? My advice is to wait until genetics is more widespread-
maybe even to the point of specialized medicine! I do have to add, however, I
am glad I had the opportunity to ease my mind of curiosity; maybe you will have
to too.